title: Deletion of 22q11 in two brothers with different phenotype.
abstract: We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowledge, this is the first report of a deletion of 22q11 in two sibs with different phenotypes and apparent maternal mosaicism detected with FISH. This family illustrates the variability of the syndrome and further demonstrates the possibility of gonadal mosaicism for a microdeletion. Prenatal diagnosis may be offered after the birth of a child with a 22q11 deletion, even in the absence of parental chromosomal anomalies.
authors.affiliation: Division of Medical Genetics, Montreal Children's Hospital, Quebec, Canada.
authors.forename: L
authors.initials: L
authors.lastname: Kasprzak
authors.forename: V M
authors.initials: VM
authors.lastname: Der Kaloustian
authors.forename: A M
authors.initials: AM
authors.lastname: Elliott
authors.forename: M
authors.initials: M
authors.lastname: Shevell
authors.forename: C
authors.initials: C
authors.lastname: Lejtenyi
authors.forename: P
authors.initials: P
authors.lastname: Eydoux
mesh_terms: D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics; D010641:Phenotype
chemical_list: D005819:Genetic Markers